Linked Data
ClinVar Variation Id:
56108
ClinVar RCV Id:
RCV000049517
dbSNP Id:
rs386833591
COSMIC:
COSM3907611
PubMed:
PMID:16450403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6604759A>C , CM000671.2:g.6604759A>C | GRCh38 |
| NC_000009.11:g.6604759A>C , CM000671.1:g.6604759A>C | GRCh37 |
| NC_000009.10:g.6594759A>C | NCBI36 |
| NG_016397.1:g.45934T>G , LRG_643:g.45934T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.887T>G MANE Select | ENSP00000370737.4:p.Leu296Arg | |
| ENST00000638654.1:c.134T>G | ENSP00000491101.1:p.Leu45Arg | |
| ENST00000639364.1:n.587T>G | ||
| ENST00000639443.1:n.455T>G | ||
| ENST00000639493.1:n.39T>G | ||
| ENST00000639954.1:n.595T>G | ||
| ENST00000640592.1:n.770T>G | ||
| ENST00000321612.6:c.887T>G | ENSP00000370737.3:p.Leu296Arg | |
| ENST00000463305.1:n.142+372T>G | ||
| NM_000170.2:c.887T>G , LRG_643t1:c.887T>G | NP_000161.2:p.Leu296Arg | |
| NM_000170.3:c.887T>G MANE Select | NP_000161.2:p.Leu296Arg |